A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733223



Internal ID13302315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173399612..173399613hg38UCSC Ensembl
Outerchr4:173399438..173399787hg38UCSC Ensembl
Innerchr4:174320763..174320764hg19UCSC Ensembl
Outerchr4:174320589..174320938hg19UCSC Ensembl
Innerchr4:174557339..174557338hg18UCSC Ensembl
Outerchr4:174557164..174557513hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38350
hg19350
hg18350
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302776
Supporting Variants
SamplesNA12004
Known GenesSCRG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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